Adrenal Hyperplasia Blood Test

What is Adrenal Hyperplasia?

Adrenal hyperplasia is a condition where the adrenal glands become enlarged and produce excessive amounts of hormones. It is caused by abnormal growth of adrenal tissue leading to overproduction of cortisol, DHEA, and other corticosteroids. The Cortisol, AM test is the most important test for diagnosis because it measures morning cortisol levels when they are naturally highest.

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What causes adrenal hyperplasia?

Adrenal hyperplasia is caused by genetic mutations that affect enzymes needed to produce cortisol, specifically 21-hydroxylase deficiency in over 90% of cases. When these enzymes are deficient, the adrenal glands enlarge and overproduce other hormones like androgens while struggling to make enough cortisol. This triggers the pituitary gland to release more ACTH hormone, which further stimulates adrenal growth and creates a cycle of hormone imbalance that can affect metabolism, blood pressure, and sexual development.

What is the best test for adrenal hyperplasia?

The Cortisol, AM test is the most important test for adrenal hyperplasia because it measures morning cortisol levels when they should naturally be at their peak, revealing abnormal production patterns. In adrenal hyperplasia, you will typically see elevated or inappropriately low cortisol levels depending on the type of enzyme deficiency. The DHEA (Dehydroepiandrosterone) test is also essential because adrenal hyperplasia causes overproduction of DHEA and other androgens, and elevated DHEA levels help confirm the diagnosis and assess the severity of adrenal dysfunction. Together, these hormone tests provide a comprehensive picture of how your adrenal glands are functioning.

When should I get tested for adrenal hyperplasia?

You should get tested if you experience unexplained weight gain or loss, persistent fatigue despite adequate rest, irregular menstrual periods or fertility problems, excessive body or facial hair growth in women, early puberty in children, or difficulty managing blood pressure. Testing is especially important if you have a family history of adrenal disorders or if you notice darkening of skin creases, salt cravings, or symptoms of hormone imbalance. Early detection through blood testing can prevent serious complications and help you start appropriate hormone replacement therapy if needed.

What are the symptoms of adrenal hyperplasia?
Symptoms of adrenal hyperplasia vary depending on which hormones are affected and whether the condition is present from birth or develops later. Common symptoms include excessive facial or body hair growth (hirsutism), irregular or absent menstrual periods, acne and oily skin, early puberty in children, short stature despite early growth spurts, salt cravings and dehydration, fatigue and muscle weakness, low blood pressure or difficulty regulating blood pressure, and infertility or difficulty conceiving. In severe cases, you might experience vomiting, diarrhea, and life-threatening electrolyte imbalances during adrenal crisis.
Who is at risk for adrenal hyperplasia?
People with a family history of congenital adrenal hyperplasia are at highest risk since this condition is inherited in an autosomal recessive pattern, meaning both parents must carry the gene mutation. Certain ethnic groups have higher carrier rates, including people of Ashkenazi Jewish, Hispanic, Italian, and Slavic descent. Newborns are routinely screened in most states because early detection prevents life-threatening complications. Adults can develop a milder form called non-classic adrenal hyperplasia that may not appear until adolescence or adulthood, particularly in women with unexplained fertility problems or irregular periods.
What happens if adrenal hyperplasia is left untreated?
Untreated adrenal hyperplasia can lead to serious complications including adrenal crisis, a life-threatening emergency with severe vomiting, dehydration, low blood pressure, and shock that requires immediate medical attention. Long-term complications include stunted growth and short adult height in children, severe acne and permanent facial hair growth in women, infertility and irregular menstrual cycles, osteoporosis from prolonged hormone imbalances, increased risk of testicular tumors in men, and psychological effects from physical changes. The excess androgens can cause ambiguous genitalia in newborn girls, which may require surgical correction. Getting tested and starting treatment early prevents most of these complications.
Can adrenal hyperplasia be diagnosed with a blood test?
Yes, adrenal hyperplasia is primarily diagnosed through blood tests that measure specific hormone levels produced by the adrenal glands. The Cortisol, AM test checks morning cortisol levels to see if your adrenal glands are producing appropriate amounts at the right time of day. The DHEA test measures this androgen hormone that becomes elevated in adrenal hyperplasia. Your doctor may also order tests for 17-hydroxyprogesterone, testosterone, androstenedione, and ACTH to get a complete picture of your adrenal function. In some cases, genetic testing can identify the specific enzyme mutations causing the condition, and ACTH stimulation tests can assess how your adrenal glands respond to hormonal signals.
How is adrenal hyperplasia treated?
Adrenal hyperplasia is treated with hormone replacement therapy to replace deficient cortisol and, if needed, aldosterone to maintain proper salt and water balance. Most people take hydrocortisone or prednisone daily to suppress excess ACTH production and reduce androgen overproduction. The dosage must be carefully adjusted based on regular blood tests to avoid under-treatment or over-treatment. During times of stress, illness, or surgery, you will need higher doses to prevent adrenal crisis. Women with excess androgen symptoms may also take medications to block androgen effects or birth control pills to regulate menstrual cycles. Treatment is usually lifelong, and you should wear a medical alert bracelet indicating your condition.
How can I prevent adrenal hyperplasia?
Since congenital adrenal hyperplasia is an inherited genetic condition, it cannot be prevented, but genetic counseling can help families understand their risk of passing the condition to children. If both parents are known carriers, prenatal testing through amniocentesis or chorionic villus sampling can detect the condition before birth. Newborn screening programs catch most cases early, preventing life-threatening complications through prompt treatment. For adults with non-classic adrenal hyperplasia, early diagnosis and treatment can prevent complications like infertility and severe symptoms. If you have a family history of the condition, consider genetic testing before having children to understand your carrier status and reproductive options.
What can I do at home for adrenal hyperplasia?
While medication is essential, you can support your treatment by taking your prescribed hormones at the same times each day and never skipping doses. Keep extra medication on hand for emergencies and increase your dose during illness, injury, or extreme stress as directed by your doctor. Increase your salt intake during hot weather or exercise to prevent dehydration, and wear a medical alert bracelet at all times. Manage stress through regular sleep schedules, moderate exercise, and relaxation techniques since stress affects hormone levels. Monitor your symptoms and blood pressure regularly, and keep all scheduled appointments for blood tests to ensure your hormone levels remain balanced. Educate family members about recognizing signs of adrenal crisis so they can get you emergency help if needed.
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Cortisol, Morning 6.2 ”g/dL
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6.2 ”g/dL

What this means

Your morning cortisol levels are slightly below the optimal range. While this is not immediately concerning, it may contribute to difficulty waking up, persistent fatigue throughout the day, and reduced ability to handle stress effectively. Low morning cortisol can result from chronic stress, poor sleep quality, or adrenal fatigue.

* Regular blood test results (e.g., CBC) typically start arriving the next business day after sample collection. More complex tests, such as hormone panels, may take up to 10–15 business days due to their complexity.

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* Regular blood test results (e.g., CBC) typically start arriving the next business day after sample collection. More complex tests, such as hormone panels, may take up to 10–15 business days due to their complexity.

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